Human Gene TREX1 (ENST00000444177.1) from GENCODE V44
Description: Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 5, mRNA. (from RefSeq NM_007248) RefSeq Summary (NM_007248): This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. Gencode Transcript: ENST00000444177.1 Gencode Gene: ENSG00000213689.14 Transcript (Including UTRs) Position: hg38 chr3:48,465,946-48,467,643 Size: 1,698 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr3:48,466,686-48,467,600 Size: 915 Coding Exon Count: 1
ID:TREX1_HUMAN DESCRIPTION: RecName: Full=Three prime repair exonuclease 1; EC=3.1.11.2; AltName: Full=3'-5' exonuclease TREX1; AltName: Full=DNase III; FUNCTION: Exonuclease with a preference for double stranded DNA with mismatched 3' termini. May play a role in DNA repair. CATALYTIC ACTIVITY: Exonucleolytic cleavage in the 3'- to 5'- direction to yield nucleoside 5'-phosphates. COFACTOR: Magnesium. Required for activity. Substitution with Mn(2+) results in partial activity (By similarity). SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Detected in thymus, spleen, liver, brain, heart, small intestine and colon. DISEASE: Defects in TREX1 are the cause of Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS1 inheritance can be autosomal recessive or dominant. DISEASE: Defects in TREX1 are a cause of susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. SLE is a chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system. DISEASE: Defects in TREX1 are the cause of chilblain lupus type 1 (CHBL1) [MIM:610448]. A cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade. DISEASE: Defects in TREX1 are the cause of vasculopathy, retinal, with cerebral leukodystrophy (RVCL) [MIM:192315]. A microvascular endotheliopathy with middle-age onset. This retinal vasculopathy is characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors. SIMILARITY: Belongs to the exonuclease superfamily. TREX family. CAUTION: The gene for this protein is either identical to or adjacent to that of ATRIP. Some of the mRNAs that encode ATRIP also encode TREX1 in another reading frame. SEQUENCE CAUTION: Sequence=AAD48774.2; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TREX1"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/trex1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NSU2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
